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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 6
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Hb East Timor [β80(EF4)Asn→His, AAC>CAC (HBB c.241A>C)], a Variant Hemoglobin Associated with Normal Hematology

Jill Finlayson Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, AustraliaCorrespondence[email protected]
,
Reza Ghassemifar Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, Australia
,
Paula Holmes Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia
,
Dianne Grey Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia
,
Lisa Figliomeni Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia
,
Christopher Newbound Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia
,
Nicole Pell Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia
,
Michael Kersten Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia
,
Michelle Jennens Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia
,
Claire Macaulay Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia
,
Laura Greenwood Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia
&
John Beilby Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, Australia
 show all
Pages 561-564 | Received 14 Jun 2010, Accepted 07 Jul 2010, Published online: 15 Nov 2010
 
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Abstract

Routine hemoglobin (Hb) analyses identified a new β-globin variant in a family from East Timor. The red cell indices were within normal limits for all affected family members. The variant is due to a missense mutation at amino acid codon 80 (AAC>CAC) which results in the substitution of histidine for asparagine.

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